Allele Registry

Canonical Allele Identifier: PA2825288519

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281411

ClinVar Variation:

992695

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Ile333Thr	CA5852727 NM_001007593.3:c.998T>C